{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA12653621",
  "communityStandardTitle": [
    "NM_014491.4(FOXP2):c.1267-2019T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.114296102T>C?assembly=hg19",
        "id": "chr7:g.114296102T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.114656047T>C?assembly=hg38",
        "id": "chr7:g.114656047T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1456031",
        "rs": 1456031
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-114296102-T-C?dataset=gnomad_r2_1",
        "id": "7-114296102-T-C",
        "variant": "7:114296102 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-114656047-T-C?dataset=gnomad_r3",
        "id": "7-114656047-T-C",
        "variant": "7:114656047 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-114656047-T-C?dataset=gnomad_r4",
        "id": "7-114656047-T-C",
        "variant": "7:114656047 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 114656047,
          "referenceAllele": "T",
          "start": 114656046
        }
      ],
      "hgvs": [
        "NC_000007.14:g.114656047T>C",
        "CM000669.2:g.114656047T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 114296102,
          "referenceAllele": "T",
          "start": 114296101
        }
      ],
      "hgvs": [
        "NC_000007.13:g.114296102T>C",
        "CM000669.1:g.114296102T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 114083338,
          "referenceAllele": "T",
          "start": 114083337
        }
      ],
      "hgvs": [
        "NC_000007.12:g.114083338T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 574738,
          "referenceAllele": "T",
          "start": 574737
        }
      ],
      "hgvs": [
        "NG_007491.2:g.574738T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 574738,
          "referenceAllele": "T",
          "start": 574737
        }
      ],
      "hgvs": [
        "NG_007491.3:g.574738T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616077"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1571,
          "endIntronDirection": "-",
          "endIntronOffset": 2018,
          "referenceAllele": "T",
          "start": 1571,
          "startIntronDirection": "-",
          "startIntronOffset": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000403559.9:c.1318-2019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385069.4:n.1318-2019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904655"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1624,
          "endIntronDirection": "-",
          "endIntronOffset": 2018,
          "referenceAllele": "T",
          "start": 1624,
          "startIntronDirection": "-",
          "startIntronOffset": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000703612.1:c.1258-2019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515396.1:n.1258-2019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911823"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1789,
          "endIntronDirection": "-",
          "endIntronOffset": 2018,
          "referenceAllele": "T",
          "start": 1789,
          "startIntronDirection": "-",
          "startIntronOffset": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000703613.1:c.1318-2019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515397.1:n.1318-2019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911824"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1620,
          "endIntronDirection": "-",
          "endIntronOffset": 2018,
          "referenceAllele": "T",
          "start": 1620,
          "startIntronDirection": "-",
          "startIntronOffset": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000703614.1:c.1267-2019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515398.1:n.1267-2019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911825"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1826,
          "endIntronDirection": "-",
          "endIntronOffset": 2018,
          "referenceAllele": "T",
          "start": 1826,
          "startIntronDirection": "-",
          "startIntronOffset": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000703616.1:c.1393-2019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515400.1:n.1393-2019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911827"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 990,
          "endIntronDirection": "+",
          "endIntronOffset": 2038,
          "referenceAllele": "T",
          "start": 990,
          "startIntronDirection": "+",
          "startIntronOffset": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000703617.1:c.990+2038T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515401.1:n.990+2038T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911828"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 544,
          "endIntronDirection": "+",
          "endIntronOffset": 2038,
          "referenceAllele": "T",
          "start": 544,
          "startIntronDirection": "+",
          "startIntronOffset": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000703618.1:c.544+2038T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911829"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1822,
          "endIntronDirection": "-",
          "endIntronOffset": 2018,
          "referenceAllele": "T",
          "start": 1822,
          "startIntronDirection": "-",
          "startIntronOffset": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000350908.9:c.1267-2019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265436.7:n.1267-2019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748449",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000350908.9:c.1267-2019T>C"
          },
          "RefSeq": {
            "hgvs": "NM_014491.4:c.1267-2019T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265436.7:n.1267-2019T>C"
          },
          "RefSeq": {
            "hgvs": "NP_055306.1:n.1267-2019T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1372,
          "endIntronDirection": "-",
          "endIntronOffset": 2018,
          "referenceAllele": "T",
          "start": 1372,
          "startIntronDirection": "-",
          "startIntronOffset": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000393489.8:c.*1061-2019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377129.4:n.*1061-2019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1582,
          "endIntronDirection": "-",
          "endIntronOffset": 2018,
          "referenceAllele": "T",
          "start": 1582,
          "startIntronDirection": "-",
          "startIntronOffset": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000350908.8:c.1267-2019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265436.7:n.1267-2019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262730"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1372,
          "endIntronDirection": "-",
          "endIntronOffset": 2018,
          "referenceAllele": "T",
          "start": 1372,
          "startIntronDirection": "-",
          "startIntronOffset": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000393489.7:c.991-2019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377129.3:n.991-2019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275654"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1640,
          "endIntronDirection": "+",
          "endIntronOffset": 2038,
          "referenceAllele": "T",
          "start": 1640,
          "startIntronDirection": "+",
          "startIntronOffset": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000393491.7:c.990+2038T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377130.3:n.990+2038T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275656"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1545,
          "endIntronDirection": "-",
          "endIntronOffset": 2018,
          "referenceAllele": "T",
          "start": 1545,
          "startIntronDirection": "-",
          "startIntronOffset": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000393494.6:c.1267-2019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377132.2:n.1267-2019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275658"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1516,
          "endIntronDirection": "-",
          "endIntronOffset": 2018,
          "referenceAllele": "T",
          "start": 1516,
          "startIntronDirection": "-",
          "startIntronOffset": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000393498.6:c.1204-2019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377135.2:n.1204-2019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275661"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1691,
          "endIntronDirection": "-",
          "endIntronOffset": 2018,
          "referenceAllele": "T",
          "start": 1691,
          "startIntronDirection": "-",
          "startIntronOffset": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000403559.8:c.1318-2019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385069.4:n.1318-2019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279836"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1715,
          "endIntronDirection": "-",
          "endIntronOffset": 2018,
          "referenceAllele": "T",
          "start": 1715,
          "startIntronDirection": "-",
          "startIntronOffset": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000408937.7:c.1342-2019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386200.3:n.1342-2019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281131"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1836,
          "endIntronDirection": "+",
          "endIntronOffset": 2038,
          "referenceAllele": "T",
          "start": 1836,
          "startIntronDirection": "+",
          "startIntronOffset": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000412402.5:c.*1186+2038T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405470.1:n.*1186+2038T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282590"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1861,
          "endIntronDirection": "-",
          "endIntronOffset": 392,
          "referenceAllele": "T",
          "start": 1861,
          "startIntronDirection": "-",
          "startIntronOffset": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000441290.6:c.*1112-393T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416825.1:n.*1112-393T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296323"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1364,
          "endIntronDirection": "-",
          "endIntronOffset": 2018,
          "referenceAllele": "T",
          "start": 1364,
          "startIntronDirection": "-",
          "startIntronOffset": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000634411.1:c.1216-2019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489135.1:n.1216-2019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407814"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1295,
          "endIntronDirection": "-",
          "endIntronOffset": 2018,
          "referenceAllele": "T",
          "start": 1295,
          "startIntronDirection": "-",
          "startIntronOffset": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000634623.1:c.1207-2019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488944.1:n.1207-2019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407887"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1428,
          "endIntronDirection": "-",
          "endIntronOffset": 2018,
          "referenceAllele": "T",
          "start": 1428,
          "startIntronDirection": "-",
          "startIntronOffset": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000635109.1:c.*1064-2019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489457.1:n.*1064-2019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408034"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1409,
          "endIntronDirection": "-",
          "endIntronOffset": 2018,
          "referenceAllele": "T",
          "start": 1409,
          "startIntronDirection": "-",
          "startIntronOffset": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000635534.1:c.1258-2019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489229.1:n.1258-2019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1607,
          "endIntronDirection": "-",
          "endIntronOffset": 2018,
          "referenceAllele": "T",
          "start": 1607,
          "startIntronDirection": "-",
          "startIntronOffset": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000635638.1:c.1270-2019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489073.1:n.1270-2019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408202"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1637,
          "endIntronDirection": "-",
          "endIntronOffset": 2018,
          "referenceAllele": "T",
          "start": 1637,
          "startIntronDirection": "-",
          "startIntronOffset": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NM_001172766.2:c.1264-2019T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166237.1:n.1264-2019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015553"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1640,
          "endIntronDirection": "-",
          "endIntronOffset": 2018,
          "referenceAllele": "T",
          "start": 1640,
          "startIntronDirection": "-",
          "startIntronOffset": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NM_014491.3:c.1267-2019T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055306.1:n.1267-2019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033226"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1715,
          "endIntronDirection": "-",
          "endIntronOffset": 2018,
          "referenceAllele": "T",
          "start": 1715,
          "startIntronDirection": "-",
          "startIntronOffset": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NM_148898.3:c.1342-2019T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_683696.2:n.1342-2019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041665"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1691,
          "endIntronDirection": "-",
          "endIntronOffset": 2018,
          "referenceAllele": "T",
          "start": 1691,
          "startIntronDirection": "-",
          "startIntronOffset": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NM_148900.3:c.1318-2019T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_683698.2:n.1318-2019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041667"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1853,
          "endIntronDirection": "+",
          "endIntronOffset": 2038,
          "referenceAllele": "T",
          "start": 1853,
          "startIntronDirection": "+",
          "startIntronOffset": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NR_033766.1:n.1853+2038T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049121"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1698,
          "endIntronDirection": "-",
          "endIntronOffset": 2018,
          "referenceAllele": "T",
          "start": 1698,
          "startIntronDirection": "-",
          "startIntronOffset": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NR_033767.1:n.1699-2019T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2054,
          "endIntronDirection": "-",
          "endIntronOffset": 2018,
          "referenceAllele": "T",
          "start": 2054,
          "startIntronDirection": "-",
          "startIntronOffset": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "XM_011516706.1:c.1411-2019T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515008.1:n.1411-2019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083906"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2321,
          "endIntronDirection": "-",
          "endIntronOffset": 2018,
          "referenceAllele": "T",
          "start": 2321,
          "startIntronDirection": "-",
          "startIntronOffset": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "XM_017012801.2:c.1342-2019T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868290.1:n.1342-2019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566297"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1822,
          "endIntronDirection": "-",
          "endIntronOffset": 2018,
          "referenceAllele": "T",
          "start": 1822,
          "startIntronDirection": "-",
          "startIntronOffset": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NM_014491.4:c.1267-2019T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055306.1:n.1267-2019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668367",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000350908.9:c.1267-2019T>C"
          },
          "RefSeq": {
            "hgvs": "NM_014491.4:c.1267-2019T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265436.7:n.1267-2019T>C"
          },
          "RefSeq": {
            "hgvs": "NP_055306.1:n.1267-2019T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1819,
          "endIntronDirection": "-",
          "endIntronOffset": 2018,
          "referenceAllele": "T",
          "start": 1819,
          "startIntronDirection": "-",
          "startIntronOffset": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NM_001172766.3:c.1264-2019T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166237.1:n.1264-2019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678790"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1897,
          "endIntronDirection": "-",
          "endIntronOffset": 2018,
          "referenceAllele": "T",
          "start": 1897,
          "startIntronDirection": "-",
          "startIntronOffset": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NM_148898.4:c.1342-2019T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_683696.2:n.1342-2019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700103"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1836,
          "endIntronDirection": "+",
          "endIntronOffset": 2038,
          "referenceAllele": "T",
          "start": 1836,
          "startIntronDirection": "+",
          "startIntronOffset": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NR_033766.2:n.1836+2038T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1880,
          "endIntronDirection": "-",
          "endIntronOffset": 2018,
          "referenceAllele": "T",
          "start": 1880,
          "startIntronDirection": "-",
          "startIntronOffset": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NR_033767.2:n.1881-2019T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1873,
          "endIntronDirection": "-",
          "endIntronOffset": 2018,
          "referenceAllele": "T",
          "start": 1873,
          "startIntronDirection": "-",
          "startIntronOffset": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NM_148900.4:c.1318-2019T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_683698.2:n.1318-2019T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729341"
    }
  ],
  "type": "nucleotide"
}